← Back to variant description
GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 6-41936044-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=41936044&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 41936044,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000372991.9",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCND3",
"gene_hgnc_id": 1585,
"hgvs_c": "c.775T>G",
"hgvs_p": "p.Ser259Ala",
"transcript": "NM_001760.5",
"protein_id": "NP_001751.1",
"transcript_support_level": null,
"aa_start": 259,
"aa_end": null,
"aa_length": 292,
"cds_start": 775,
"cds_end": null,
"cds_length": 879,
"cdna_start": 934,
"cdna_end": null,
"cdna_length": 2026,
"mane_select": "ENST00000372991.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCND3",
"gene_hgnc_id": 1585,
"hgvs_c": "c.775T>G",
"hgvs_p": "p.Ser259Ala",
"transcript": "ENST00000372991.9",
"protein_id": "ENSP00000362082.5",
"transcript_support_level": 1,
"aa_start": 259,
"aa_end": null,
"aa_length": 292,
"cds_start": 775,
"cds_end": null,
"cds_length": 879,
"cdna_start": 934,
"cdna_end": null,
"cdna_length": 2026,
"mane_select": "NM_001760.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCND3",
"gene_hgnc_id": 1585,
"hgvs_c": "c.532T>G",
"hgvs_p": "p.Ser178Ala",
"transcript": "ENST00000372988.8",
"protein_id": "ENSP00000362079.4",
"transcript_support_level": 1,
"aa_start": 178,
"aa_end": null,
"aa_length": 211,
"cds_start": 532,
"cds_end": null,
"cds_length": 636,
"cdna_start": 1045,
"cdna_end": null,
"cdna_length": 2133,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCND3",
"gene_hgnc_id": 1585,
"hgvs_c": "c.985T>G",
"hgvs_p": "p.Ser329Ala",
"transcript": "NM_001424052.1",
"protein_id": "NP_001410981.1",
"transcript_support_level": null,
"aa_start": 329,
"aa_end": null,
"aa_length": 362,
"cds_start": 985,
"cds_end": null,
"cds_length": 1089,
"cdna_start": 1144,
"cdna_end": null,
"cdna_length": 2236,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCND3",
"gene_hgnc_id": 1585,
"hgvs_c": "c.625T>G",
"hgvs_p": "p.Ser209Ala",
"transcript": "NM_001287427.2",
"protein_id": "NP_001274356.1",
"transcript_support_level": null,
"aa_start": 209,
"aa_end": null,
"aa_length": 242,
"cds_start": 625,
"cds_end": null,
"cds_length": 729,
"cdna_start": 1434,
"cdna_end": null,
"cdna_length": 2526,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCND3",
"gene_hgnc_id": 1585,
"hgvs_c": "c.625T>G",
"hgvs_p": "p.Ser209Ala",
"transcript": "ENST00000372987.8",
"protein_id": "ENSP00000362078.4",
"transcript_support_level": 2,
"aa_start": 209,
"aa_end": null,
"aa_length": 242,
"cds_start": 625,
"cds_end": null,
"cds_length": 729,
"cdna_start": 1145,
"cdna_end": null,
"cdna_length": 2233,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCND3",
"gene_hgnc_id": 1585,
"hgvs_c": "c.559T>G",
"hgvs_p": "p.Ser187Ala",
"transcript": "NM_001136125.3",
"protein_id": "NP_001129597.1",
"transcript_support_level": null,
"aa_start": 187,
"aa_end": null,
"aa_length": 220,
"cds_start": 559,
"cds_end": null,
"cds_length": 663,
"cdna_start": 718,
"cdna_end": null,
"cdna_length": 1810,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCND3",
"gene_hgnc_id": 1585,
"hgvs_c": "c.559T>G",
"hgvs_p": "p.Ser187Ala",
"transcript": "ENST00000414200.6",
"protein_id": "ENSP00000397545.2",
"transcript_support_level": 2,
"aa_start": 187,
"aa_end": null,
"aa_length": 220,
"cds_start": 559,
"cds_end": null,
"cds_length": 663,
"cdna_start": 665,
"cdna_end": null,
"cdna_length": 1724,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCND3",
"gene_hgnc_id": 1585,
"hgvs_c": "c.532T>G",
"hgvs_p": "p.Ser178Ala",
"transcript": "NM_001136017.3",
"protein_id": "NP_001129489.1",
"transcript_support_level": null,
"aa_start": 178,
"aa_end": null,
"aa_length": 211,
"cds_start": 532,
"cds_end": null,
"cds_length": 636,
"cdna_start": 971,
"cdna_end": null,
"cdna_length": 2082,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCND3",
"gene_hgnc_id": 1585,
"hgvs_c": "c.532T>G",
"hgvs_p": "p.Ser178Ala",
"transcript": "NM_001424053.1",
"protein_id": "NP_001410982.1",
"transcript_support_level": null,
"aa_start": 178,
"aa_end": null,
"aa_length": 211,
"cds_start": 532,
"cds_end": null,
"cds_length": 636,
"cdna_start": 962,
"cdna_end": null,
"cdna_length": 2054,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCND3",
"gene_hgnc_id": 1585,
"hgvs_c": "c.532T>G",
"hgvs_p": "p.Ser178Ala",
"transcript": "NM_001424055.1",
"protein_id": "NP_001410984.1",
"transcript_support_level": null,
"aa_start": 178,
"aa_end": null,
"aa_length": 211,
"cds_start": 532,
"cds_end": null,
"cds_length": 636,
"cdna_start": 947,
"cdna_end": null,
"cdna_length": 2039,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCND3",
"gene_hgnc_id": 1585,
"hgvs_c": "c.532T>G",
"hgvs_p": "p.Ser178Ala",
"transcript": "ENST00000511642.5",
"protein_id": "ENSP00000426212.1",
"transcript_support_level": 2,
"aa_start": 178,
"aa_end": null,
"aa_length": 211,
"cds_start": 532,
"cds_end": null,
"cds_length": 636,
"cdna_start": 1284,
"cdna_end": null,
"cdna_length": 2394,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCND3",
"gene_hgnc_id": 1585,
"hgvs_c": "c.395T>G",
"hgvs_p": "p.Leu132Arg",
"transcript": "ENST00000510503.5",
"protein_id": "ENSP00000425986.1",
"transcript_support_level": 3,
"aa_start": 132,
"aa_end": null,
"aa_length": 195,
"cds_start": 395,
"cds_end": null,
"cds_length": 588,
"cdna_start": 648,
"cdna_end": null,
"cdna_length": 1257,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCND3",
"gene_hgnc_id": 1585,
"hgvs_c": "c.187T>G",
"hgvs_p": "p.Ser63Ala",
"transcript": "NM_001136126.3",
"protein_id": "NP_001129598.1",
"transcript_support_level": null,
"aa_start": 63,
"aa_end": null,
"aa_length": 96,
"cds_start": 187,
"cds_end": null,
"cds_length": 291,
"cdna_start": 549,
"cdna_end": null,
"cdna_length": 1641,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCND3",
"gene_hgnc_id": 1585,
"hgvs_c": "c.187T>G",
"hgvs_p": "p.Ser63Ala",
"transcript": "NM_001287434.2",
"protein_id": "NP_001274363.1",
"transcript_support_level": null,
"aa_start": 63,
"aa_end": null,
"aa_length": 96,
"cds_start": 187,
"cds_end": null,
"cds_length": 291,
"cdna_start": 731,
"cdna_end": null,
"cdna_length": 1823,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCND3",
"gene_hgnc_id": 1585,
"hgvs_c": "c.187T>G",
"hgvs_p": "p.Ser63Ala",
"transcript": "NM_001424056.1",
"protein_id": "NP_001410985.1",
"transcript_support_level": null,
"aa_start": 63,
"aa_end": null,
"aa_length": 96,
"cds_start": 187,
"cds_end": null,
"cds_length": 291,
"cdna_start": 1401,
"cdna_end": null,
"cdna_length": 2493,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCND3",
"gene_hgnc_id": 1585,
"hgvs_c": "c.187T>G",
"hgvs_p": "p.Ser63Ala",
"transcript": "NM_001424057.1",
"protein_id": "NP_001410986.1",
"transcript_support_level": null,
"aa_start": 63,
"aa_end": null,
"aa_length": 96,
"cds_start": 187,
"cds_end": null,
"cds_length": 291,
"cdna_start": 746,
"cdna_end": null,
"cdna_length": 1838,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCND3",
"gene_hgnc_id": 1585,
"hgvs_c": "c.187T>G",
"hgvs_p": "p.Ser63Ala",
"transcript": "ENST00000415497.6",
"protein_id": "ENSP00000401595.2",
"transcript_support_level": 2,
"aa_start": 63,
"aa_end": null,
"aa_length": 96,
"cds_start": 187,
"cds_end": null,
"cds_length": 291,
"cdna_start": 755,
"cdna_end": null,
"cdna_length": 1843,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCND3",
"gene_hgnc_id": 1585,
"hgvs_c": "c.187T>G",
"hgvs_p": "p.Ser63Ala",
"transcript": "ENST00000616010.4",
"protein_id": "ENSP00000484424.1",
"transcript_support_level": 5,
"aa_start": 63,
"aa_end": null,
"aa_length": 96,
"cds_start": 187,
"cds_end": null,
"cds_length": 291,
"cdna_start": 937,
"cdna_end": null,
"cdna_length": 2047,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCND3",
"gene_hgnc_id": 1585,
"hgvs_c": "c.166T>G",
"hgvs_p": "p.Ser56Ala",
"transcript": "NM_001424058.1",
"protein_id": "NP_001410987.1",
"transcript_support_level": null,
"aa_start": 56,
"aa_end": null,
"aa_length": 89,
"cds_start": 166,
"cds_end": null,
"cds_length": 270,
"cdna_start": 412,
"cdna_end": null,
"cdna_length": 1504,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCND3",
"gene_hgnc_id": 1585,
"hgvs_c": "c.166T>G",
"hgvs_p": "p.Ser56Ala",
"transcript": "NM_001424059.1",
"protein_id": "NP_001410988.1",
"transcript_support_level": null,
"aa_start": 56,
"aa_end": null,
"aa_length": 89,
"cds_start": 166,
"cds_end": null,
"cds_length": 270,
"cdna_start": 797,
"cdna_end": null,
"cdna_length": 1889,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCND3",
"gene_hgnc_id": 1585,
"hgvs_c": "c.166T>G",
"hgvs_p": "p.Ser56Ala",
"transcript": "NM_001424060.1",
"protein_id": "NP_001410989.1",
"transcript_support_level": null,
"aa_start": 56,
"aa_end": null,
"aa_length": 89,
"cds_start": 166,
"cds_end": null,
"cds_length": 270,
"cdna_start": 581,
"cdna_end": null,
"cdna_length": 1673,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCND3",
"gene_hgnc_id": 1585,
"hgvs_c": "c.166T>G",
"hgvs_p": "p.Ser56Ala",
"transcript": "NM_001424061.1",
"protein_id": "NP_001410990.1",
"transcript_support_level": null,
"aa_start": 56,
"aa_end": null,
"aa_length": 89,
"cds_start": 166,
"cds_end": null,
"cds_length": 270,
"cdna_start": 628,
"cdna_end": null,
"cdna_length": 1720,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCND3",
"gene_hgnc_id": 1585,
"hgvs_c": "c.638T>G",
"hgvs_p": "p.Leu213Arg",
"transcript": "XM_011514971.3",
"protein_id": "XP_011513273.1",
"transcript_support_level": null,
"aa_start": 213,
"aa_end": null,
"aa_length": 276,
"cds_start": 638,
"cds_end": null,
"cds_length": 831,
"cdna_start": 797,
"cdna_end": null,
"cdna_length": 1908,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCND3",
"gene_hgnc_id": 1585,
"hgvs_c": "c.422T>G",
"hgvs_p": "p.Leu141Arg",
"transcript": "XM_047419491.1",
"protein_id": "XP_047275447.1",
"transcript_support_level": null,
"aa_start": 141,
"aa_end": null,
"aa_length": 204,
"cds_start": 422,
"cds_end": null,
"cds_length": 615,
"cdna_start": 581,
"cdna_end": null,
"cdna_length": 1692,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCND3",
"gene_hgnc_id": 1585,
"hgvs_c": "n.428T>G",
"hgvs_p": null,
"transcript": "ENST00000511686.5",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 576,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCND3",
"gene_hgnc_id": 1585,
"hgvs_c": "c.*500T>G",
"hgvs_p": null,
"transcript": "ENST00000512426.5",
"protein_id": "ENSP00000421511.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 175,
"cds_start": -4,
"cds_end": null,
"cds_length": 528,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 876,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CCND3",
"gene_hgnc_id": 1585,
"dbsnp": "rs1051130",
"frequency_reference_population": 0.5559666,
"hom_count_reference_population": 253044,
"allele_count_reference_population": 896604,
"gnomad_exomes_af": 0.549785,
"gnomad_genomes_af": 0.61538,
"gnomad_exomes_ac": 803081,
"gnomad_genomes_ac": 93523,
"gnomad_exomes_homalt": 223207,
"gnomad_genomes_homalt": 29837,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 9.648597369960044e-7,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.042,
"revel_prediction": "Benign",
"alphamissense_score": 0.0609,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.8,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.143,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000372991.9",
"gene_symbol": "CCND3",
"hgnc_id": 1585,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.775T>G",
"hgvs_p": "p.Ser259Ala"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}